{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826140085",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 643,
          "referenceAllele": "S",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010727",
      "geneNCBI_id": 9723,
      "geneSymbol": "SEMA3E",
      "hgvs": [
        "NP_001171600.1:p.Ser643Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252317",
          "hgvs": "NM_001178129.2:c.1928C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156351"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17544[alleleid]",
        "alleleId": 17544,
        "preferredName": "NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2505",
        "RCV": [
          "RCV000002611",
          "RCV002247242"
        ],
        "variationId": 2505
      }
    ]
  },
  "type": "amino-acid"
}